Rare Childhood Disease Helping to Unravel How PTEN Mutations Affect Prostate and Other Cancers

Rare Childhood Disease Helping to Unravel How PTEN Mutations Affect Prostate and Other Cancers
Researchers have found a link between the rare childhood disease, called Fanconi anemia, and a major cancer gene, known as PTEN, that is often mutated in brain, uterine, and prostate cancers. In the study, "The PTEN phosphatase functions cooperatively with the Fanconi anemia proteins in DNA crosslink repair," they show that Fanconi anemia proteins and PTEN work together to repair DNA damage caused by DNA crosslinking agents, a class of drugs that includes some chemotherapies (such as the platinum-based chemotherapy, cisplatin). Their finding suggests that Fanconi anemia proteins may help predict which cancer patients will benefit from such treatments. The study was published in Scientific Reports. Fanconi anemia is a rare disease characterized by birth defects, bone marrow failure, and an increased risk of cancer. "People often ask why we study such a rare disease," Niall Howlett, an associate professor of cell and molecular biology at the University of Rhode Island and the study's lead author, said in a press release. Howlett has been studying Fanconi anemia for nearly 20 years, and believes it important not only because this disease has no cure or effective treatment, but also because a better understanding may help other patients. One example where Fanconi anemia studies have helped others is in blood transplants. The first blood transplant was performed in a patient with the disease, and safer and more effective blood transplants were made possible due to studies in these patients. Researchers have al
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